Il'ina E G, Stefanenko G N
Genetika. 1991 Jul;27(7):1269-74.
A new case of the syndrome with craniosynostosis and Marfanoid features is reported. The data presented and the analysis of relevant literature are suggestive of a community of the Marfanoid features with clinical and genetic heterogeneity. The possibility to delineate the Marfanoid syndrome with craniosynostosis as a nosologic unit and its etiology are discussed.
报告了一例患有颅骨缝早闭和类马凡氏特征综合征的新病例。所呈现的数据以及对相关文献的分析表明,类马凡氏特征存在临床和遗传异质性。讨论了将伴有颅骨缝早闭的类马凡氏综合征作为一个疾病分类单位进行界定的可能性及其病因。